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Early-Onset High Myopia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
15487 ABCC6 81479,81479 Order Options and Pricing
ADAMTS10 81479,81479
ADAMTS17 81479,81479
ADAMTS18 81479,81479
ADAMTS2 81479,81479
ADAMTSL4 81479,81479
AGK 81479,81479
ALDH18A1 81479,81479
ARHGAP31 81479,81479
ARL2 81479,81479
ARR3 81479,81479
ASXL1 81175,81479
ATOH7 81479,81479
B3GALT6 81479,81479
BEST1 81406,81479
BSG 81479,81479
CACNA1F 81479,81479
CAPN5 81479,81479
CARS1 81479,81479
CBS 81406,81479
CFAP410 81479,81479
CFAP418 81479,81479
CHST14 81479,81479
CNGA3 81479,81479
CNGB3 81479,81479
COL11A1 81479,81479
COL11A2 81479,81479
COL18A1 81479,81479
COL2A1 81479,81479
COL4A1 81408,81479
COL5A1 81479,81479
COL9A1 81479,81479
COL9A2 81479,81479
COL9A3 81479,81479
CPSF1 81479,81479
CRB1 81406,81479
CTNNB1 81479,81479
CTSH 81479,81479
CYP4V2 81479,81479
DOCK6 81479,81479
DZIP1 81479,81479
ELOVL4 81479,81479
EPHA2 81479,81479
EPHB2 81479,81479
ERBB3 81479,81479
FAM161A 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FGFR3 81479,81479
FKBP14 81479,81479
FZD4 81479,81479
GJA1 81479,81479
GJA8 81479,81479
GNAT1 81479,81479
GNB3 81479,81479
GNPTG 81479,81479
GPR143 81479,81479
GPR179 81479,81479
GRK1 81479,81479
GRM6 81479,81479
GUCY2D 81479,81479
GZF1 81479,81479
HS6ST2 81479,81479
IFIH1 81479,81479
IRX5 81479,81479
JAG1 81407,81406
KCNJ13 81479,81479
KCNV2 81479,81479
KIF11 81479,81479
LAMA1 81479,81479
LOXL3 81479,81479
LRIT3 81479,81479
LRP2 81479,81479
LRP5 81406,81479
LRPAP1 81479,81479
LRRC32 81479,81479
LTBP2 81479,81479
MMADHC 81479,81479
MYCBP2 81479,81479
MYOC 81479,81479
NDP 81404,81403
NDUFAF7 81479,81479
NIPBL 81479,81479
NYX 81479,81479
OAT 81479,81479
OPA1 81407,81406
P3H2 81479,81479
P4HA1 81479,81479
P4HA2 81479,81479
PACS1 81479,81479
PAX2 81406,81479
PAX6 81479,81479
PDE6B 81479,81479
PIK3R1 81479,81479
PITX3 81479,81479
PLOD1 81479,81479
PLOD3 81479,81479
POLR3B 81479,81479
POMGNT1 81406,81479
POMT1 81406,81479
PRDM5 81479,81479
PRIMPOL 81479,81479
PROM1 81479,81479
PRPF6 81479,81479
PRPH2 81404,81479
RAB28 81479,81479
RBP3 81479,81479
RCBTB1 81479,81479
RDH5 81479,81479
RHO 81404,81479
RP1 81404,81479
RPE65 81406,81479
RPGR 81479,81479
SAG 81479,81479
SCO2 81404,81479
SLC24A1 81479,81479
SLC38A8 81479,81479
SLC39A5 81479,81479
SLITRK6 81479,81479
SMS 81479,81479
TBC1D24 81479,81479
TFAP2A 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TNFRSF21 81479,81479
TRPM1 81479,81479
TSPAN12 81479,81479
TTC8 81479,81479
TULP1 81479,81479
VCAN 81479,81479
VPS13B 81408,81407
VSX1 81479,81479
XYLT1 81479,81479
ZNF408 81479,81479
ZNF469 81479,81479
ZNF644 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
15487Genes x (136)81479 81175(x1), 81403(x1), 81404(x5), 81405(x2), 81406(x10), 81407(x3), 81408(x3), 81479(x247) $1240 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Myopia is the condition in which distant objects appear blurry due to refractive error in the eye, also known as nearsightedness. High myopia refers to the severe form of this condition and is defined as a refractive error of at least -6.00. Early-onset high myopia is loosely defined, but generally considered to have an age of onset of <10 years old. While myopia in general is very prevalent (up to 90% in some populations), the more specific early-onset high myopia is still estimated with a prevalence of about 1% in 5 and 6-year-olds (Li et al. 2022. PubMed ID: 34989760).

Early-onset high myopia can occur either in isolation or as part of a syndrome such as Stickler syndrome or Ehlers-Danlos syndrome. While many, variable phenotypes can be associated with these syndromes, the myopia phenotype can be one of the earliest indications. Therefore, this panel is intended to serve as a differential diagnosis test for syndromic and non-syndromic high myopia.

Genetics

Non-syndromic myopia, like many traits, is caused by a combination of environmental and genetics factors; however, early-onset high myopia is more likely to have an underlying genetic component (Li and Zhang. 2017. PubMed ID: 29386878). To date, over 100 genes have been associated with myopia as reviewed by Cai et al. (Cai et al. 2019. PubMed ID: 31472110). The most common genes with causative variants include ARR3, ZNF644, SLC39A5, CCDC111, and LEPREL1, with inheritance patterns of X-linked, autosomal dominant, and autosomal recessive. In addition, this panel includes many genes with variants known to cause primary ocular disorders such as glaucoma, retinal dystrophy, and congenital stationary night blindness which may first present with myopia. Many of these genes are involved in the expected pathways of lens, retina, and general eye development.

Syndromes that include the symptom of high myopia such as Stickler syndrome, Ehlers-Danlos syndrome, and Adams-Oliver syndrome are also inherited in every manner (X-linked, autosomal dominant, autosomal recessive). Causative variants have been found in genes with a wide variety of functions from collagen genes (COL2A1, COL11A1, etc.) to metalloendopeptidase genes (ADAMTS10, ADAMTS2, etc.; Flitcroft et al. 2018. PubMed ID: 29346494).

See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

To our knowledge, there have been no studies on the clinical sensitivity of a myopia gene panel. We expect this panel to perform similarly to other eye disorder panels with a test yield of ~20%. The general heritability of myopia has been calculated to be ~90%, indicating genetics plays a large role in the development of the condition (Hammond et al. 2001. PubMed ID: 11328732). However, this is likely to include complex (polygenic) inheritance of variants. The incidence of monogenic myopia is unknown.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Please note that this test does not provide 100% coverage of the purine-rich region of RPGR ORF15 which requires special-chemistry Sanger sequencing. Patients with a strong indication for a diagnosis in RPGR (X-linked inheritance, retinitis pigmentosa phenotype) are better suited for testing with X-linked retinitis pigmentosa (XLRP) panel, which includes sequencing of ORF15.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with a refractive error of at least -6.00 diopters and an age of onset of <10 years are good candidates for the early-onset high myopia test. Other syndromic features may or may not be present in the patient.

Genes

Official Gene Symbol OMIM ID
ABCC6 603234
ADAMTS10 608990
ADAMTS17 607511
ADAMTS18 607512
ADAMTS2 604539
ADAMTSL4 610113
AGK 610345
ALDH18A1 138250
ARHGAP31 610911
ARL2 601175
ARR3 301770
ASXL1 612990
ATOH7 609875
B3GALT6 615291
BEST1 607854
BSG 109480
CACNA1F 300110
CAPN5 602537
CARS1 123859
CBS 613381
CFAP410 603191
CFAP418 614477
CHST14 608429
CNGA3 600053
CNGB3 605080
COL11A1 120280
COL11A2 120290
COL18A1 120328
COL2A1 120140
COL4A1 120130
COL5A1 120215
COL9A1 120210
COL9A2 120260
COL9A3 120270
CPSF1 606027
CRB1 604210
CTNNB1 116806
CTSH 116820
CYP4V2 608614
DOCK6 614194
DZIP1 608671
ELOVL4 605512
EPHA2 176946
EPHB2 600997
ERBB3 190151
FAM161A 613596
FBN1 134797
FBN2 612570
FGFR3 134934
FKBP14 614505
FZD4 604579
GJA1 121014
GJA8 600897
GNAT1 139330
GNB3 139130
GNPTG 607838
GPR143 300808
GPR179 614515
GRK1 180381
GRM6 604096
GUCY2D 600179
GZF1 613842
HS6ST2 300545
IFIH1 606951
IRX5 606195
JAG1 601920
KCNJ13 603208
KCNV2 607604
KIF11 148760
LAMA1 150320
LOXL3 607163
LRIT3 615004
LRP2 600073
LRP5 603506
LRPAP1 104225
LRRC32 137207
LTBP2 602091
MMADHC 611935
MYCBP2 610392
MYOC 601652
NDP 300658
NDUFAF7 615898
NIPBL 608667
NYX 300278
OAT 613349
OPA1 605290
P3H2 610341
P4HA1 176710
P4HA2 600608
PACS1 607492
PAX2 167409
PAX6 607108
PDE6B 180072
PIK3R1 171833
PITX3 602669
PLOD1 153454
PLOD3 603066
POLR3B 614366
POMGNT1 606822
POMT1 607423
PRDM5 614161
PRIMPOL 615421
PROM1 604365
PRPF6 613979
PRPH2 179605
RAB28 612994
RBP3 180290
RCBTB1 607867
RDH5 601617
RHO 180380
RP1 603937
RPE65 180069
RPGR 312610
SAG 181031
SCO2 604272
SLC24A1 603617
SLC38A8 615585
SLC39A5 608730
SLITRK6 609681
SMS 300105
TBC1D24 613577
TFAP2A 107580
TGFBR1 190181
TGFBR2 190182
TNFRSF21 605732
TRPM1 603576
TSPAN12 613138
TTC8 608132
TULP1 602280
VCAN 118661
VPS13B 607817
VSX1 605020
XYLT1 608124
ZNF408 616454
ZNF469 612078
ZNF644 0
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Achondrogenesis Type 2 AD 200610
Achondroplasia AD 100800
Achromatopsia 2 AR 216900
Achromatopsia 3 AR 262300
Acromicric Dysplasia AD 102370
Adams-Oliver Syndrome 1 AD 100300
Adams-Oliver Syndrome 2 AR 614219
Agammaglobulinemia 7, Autosomal Recessive AR 615214
Aicardi-Goutieres Syndrome 7 AD 615846
Al-Gazali syndrome AR 609465
Alagille Syndrome 1 AD 118450
Aland Island Eye Disease XL 300600
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Anterior Segment Mesenchymal Dysgenesis AD 107250
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Atrioventricular Septal Defect AD 600309
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Avascular Necrosis Of Femoral Head, Primary AD 608805
Bardet-Biedl Syndrome 21 AR 617406
Bardet-Biedl Syndrome 8 AR 615985
Behr Syndrome AR 210000
Bestrophinopathy, Autosomal Recessive 611809
Bietti Crystalline Corneoretinal Dystrophy AR 210370
Bladder Cancer 109800
Bleeding disorder, platelet-type, 22 AR 618462
Blood Group--Ok 111380
Bohring-Opitz Syndrome AD 605039
Bone Fragility With Contractures, Arterial Rupture, And Deafness AR 612394
Bone Mineral Density Quantitative Trait Locus 1 AD 601884
Branchiooculofacial Syndrome AD 113620
Brittle Cornea Syndrome 1 AR 229200
Brittle Cornea Syndrome 2 AR 614170
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AR 610474
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cataract 11 AR 610623
Cataract 38 AR 614691
Cataract 6 AD 116600
Cataract, Zonular Pulverulent 1 AD 116200
Central areolar choroidal dystrophy 1 AD 215500
Cervical Cancer 603956
Charcot-Marie-Tooth disease, axonal, type 2HH AD 619574
Choroidal Dystrophy, Central Areolar 2 AD 613105
Cleft palate, proliferative retinopathy, and developmental delay AR 619074
Cohen Syndrome AR 216550
Coloboma Of Optic Disc AD 120430
Coloboma, Ocular AD 120200
Cone-Rod Dystrophy 12 AR 612657
Cone-rod dystrophy 16 AR 614500
Cone-Rod Dystrophy 18 AR 615374
Cone-Rod Dystrophy 6 AR 601777
Cone-Rod Dystrophy X-Linked 3 XL 300476
Cone-Rod Dystrophy, X-Linked, 1 XL 304020
Congenital Aniridia AD 106210
Congenital Contractural Arachnodactyly AD 121050
Cornelia de Lange syndrome 1 AD 122470
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 614195
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Cutis Laxa, Autosomal Dominant 3 AD 616603
Czech Dysplasia Metatarsal Type AD 609162
Deafness , autosomal recessive 86 AR 614617
Deafness and myopia AR 221200
Deafness, Autosomal Dominant 13 AD 601868
Deafness, autosomal dominant 37 AD 618533
Deafness, autosomal dominant 65 AD 616044
Deafness, Autosomal Recessive 53 AR 609706
Deafness, congenital heart defects, and posterior embryotoxon AD 617992
Desbuquois Dysplasia 2 AR 615777
Dominant Hereditary Optic Atrophy AD 165500
Donnai Barrow Syndrome AR 222448
DOOR syndrome AR 220500
Ectopia lentis et pupillae AR 225200
Ectopia Lentis, Isolated Autosomal Recessive AR 225100
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss AR 614557
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient AR 225400
Ehlers-Danlos Syndrome, Musculocontractural Type AR 601776
Ehlers-Danlos Syndrome, Progeroid Type, 2 AR 615349
Ehlers-Danlos Syndrome, Type 1 AD 130000
Ehlers-Danlos Syndrome, Type VIIC AR 225410
Epidermal Nevus 162900
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Esophageal Cancer 133239
Essential Hypertension MF 145500
Exudative Vitreoretinopathy 2, X-Linked XL 305390
Exudative Vitreoretinopathy 4 AR 601813
Exudative Vitreoretinopathy 5 AD 613310
Exudative Vitreoretinopathy 6 AD 616468
Exudative Vitreoretinopathy 7 AD 617572
Fallot Tetralogy AD 187500
Familial Colorectal Cancer 114500
Familial Exudative Vitreoretinopathy AD 133780
Fibrochondrogenesis AR 228520
Fibrochondrogenesis 2 AR 614524
Fibromuscular dysplasia, multifocal AD 619329
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis AR 609218
Foveal Hypoplasia And Presenile Cataract Syndrome AD 136520
Geleophysic Dysplasia 2 AD 614185
Glaucoma 3, Primary Congenital, D 613086
Glaucoma, Normal Tension, Susceptibility To 606657
Glaucoma, primary closed-angle AD 618880
Glomerulosclerosis, Focal Segmental, 7 AD 616002
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia AR 258870
Hamamy syndrome AR 611174
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Homocystinuria Due To Cbs Deficiency AR 236200
Hypochondroplasia AD 146000
Hypoplastic Left Heart Syndrome AR 241550
Ichthyosis, spastic quadriplegia, and mental retardation AR 614457
Immunodeficiency 36 AD 616005
Intervertebral Disc Disorder 603932
Joint laxity, short stature, and myopia AR 617662
Keratitis, Hereditary AD 148190
Keratoconus 1 AD 148300
Kniest Dysplasia AD 156550
Knobloch Syndrome 1 AR 267750
Lacrimoauriculodentodigital Syndrome AD 149730
Leber Congenital Amaurosis 1 AR 204000
Leber Congenital Amaurosis 15 AR 613843
Leber Congenital Amaurosis 16 AR 614186
Leber Congenital Amaurosis 2 AR 204100
Leber Congenital Amaurosis 8 AR 613835
Legg-Calve-Perthes Disease AD 150600
Lethal Congenital Contracture Syndrome 2 AR 607598
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism AR 614381
Liver Cancer 114550
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Macular Degeneration, Early-Onset AD 616118
Macular Degeneration, X-Linked Atrophic XL 300834
Macular Dystrophy, Retinal, 2 AD 608051
Macular Dystrophy, Vitelliform, Adult-Onset AD 608161
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Marshall Syndrome AD 154780
Mass Syndrome AD 604308
Medulloblastoma 155255
Mental Retardation, Autosomal dominant 19 AD 615075
Methylmalonic Aciduria and Homocystinuria, cblD Type AR 277410
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation AD 152950
Microcephaly, developmental delay, and brittle hair syndrome AR 618891
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus AR 615458
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 AD 619082
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma AR 251750
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) AR 616896
Mitral valve prolapse 3 AD 610840
Mucolipidosis III Gamma AR 252605
Muenke Syndrome AD 602849
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 3 AD 600969
Multiple Epiphyseal Dysplasia 6 AD 614135
Multiple Self Healing Squamous Epithelioma AD 132800
Muscle Eye Brain Disease AR 253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 AR 613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 AR 613151
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 AR 609308
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 AR 613157
Myelodysplastic Syndrome 614286
Myoclonic Epilepsy, Familial Infantile AR 605021
Myopia 21, Autosomal Dominant AD 614167
Myopia 22, autosomal dominant AD 615420
Myopia 23, autosomal recessive AR 615431
Myopia 24, autosomal dominant AD 615946
Myopia 25, autosomal dominant AD 617238
Myopia 26, X-linked, female-limited XL 301010
Myopia 27 AD 618827
Myopia 6 AD 608908
Myopia, High, with Cataract And Vitreoretinal Degeneration AR 614292
Neoplasm Of Ovary 167000
Night Blindness, Congenital Stationary, Nougaret Type AD 610444
Night Blindness, Congenital Stationary, Rambusch Type AD 163500
Night Blindness, Congenital Stationary, Rhodopsin-Related 610445
Night Blindness, Congenital Stationary, Type 1A XL 310500
Night Blindness, Congenital Stationary, Type 1B AR 257270
Night Blindness, Congenital Stationary, Type 1C 613216
Night Blindness, Congenital Stationary, Type 1D AR 613830
Night Blindness, Congenital Stationary, Type 1E AR 614565
Night Blindness, Congenital Stationary, Type 1F AR 615058
Night Blindness, Congenital Stationary, Type 1G AR 616389
Night blindness, congenital stationary, type 1H AR 617024
Night blindness, congenital stationary, type 1I AR 618555
Night Blindness, Congenital Stationary, Type 2A XL 300071
Norrie Disease XL 310600
Nystagmus 6, Congenital, X-Linked XL 300814
Ocular Albinism, Type I XL 300500
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oguchi Disease 2 613411
Oguchi's Disease AR 258100
Optic Atrophy Type 1 AD 125250
Optic Nerve Hypoplasia, Bilateral AD 165550
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteopetrosis Autosomal Dominant Type 1 AD 607634
Osteoporosis AD 166710
Osteoporosis With Pseudoglioma AR 259770
Otospondylomegaepiphyseal Dysplasia AR 215150
Paganini-Miozzo syndrome XL 301025
Palmoplantar keratoderma with congenital alopecia AD 104100
Papillorenal Syndrome AD 120330
Patterned Dystrophy Of Retinal Pigment Epithelium AD 169150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive AR 221900
Peters Anomaly AD 604229
Pigmentary Retinal Dystrophy AR 136880
Pigmented Paravenous Chorioretinal Atrophy AD 172870
Pilomatrixoma 132600
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polycystic Liver Disease 4 with or without Kidney Cysts AD 617875
Porencephaly 1 AD 175780
Poretti-Boltshauser Syndrome AR 615960
Primary Open Angle Glaucoma Juvenile Onset 1 AD 137750
Prostate Cancer/Brain Cancer Susceptibility 603688
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Retinal arteries, tortuosity of AD 180000
Retinal Cone Dystrophy 3B AR 610356
Retinal Dystrophy with Macular Staphyloma AR 617547
Retinal Dystrophy with or without Extraocular Anomalies AR 617175
Retinitis Pigmentosa 1 AR 180100
Retinitis Pigmentosa 12 AR 600105
Retinitis Pigmentosa 14 AR 600132
Retinitis Pigmentosa 15 300029
Retinitis Pigmentosa 20 AR 613794
Retinitis Pigmentosa 28 606068
Retinitis Pigmentosa 4 AR 613731
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 41 AR 612095
Retinitis Pigmentosa 47 613758
Retinitis Pigmentosa 50 613194
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 60 AD 613983
Retinitis Pigmentosa 66 AR 615233
Retinitis Pigmentosa 7 AR 608133
Retinitis Pigmentosa 72 AR 616469
Retinitis pigmentosa 76 AR 617123
Retinitis pigmentosa 87 with choroidal involvement AD 618697
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 300455
SADDAN AD 616482
Schuurs-Hoeijmakers Syndrome AD 615009
Sengers syndrome AR 212350
SHORT syndrome AD 269880
Singleton-Merten Syndrome 1 AD 182250
Snowflake Vitreoretinal Degeneration AD 193230
Snyder Robinson Syndrome XL 309583
Spastic Paraplegia 9A AD 601162
Spastic Paraplegia 9B AR 616586
Spermatogenic failure 47 AR 619102
Spinocerebellar ataxia 34 AD 133190
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures AR 271640
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondylometaphyseal dysplasia, axial AR 602271
Spondyloperipheral Dysplasia AD 271700
Stargardt Disease 3 AD 600110
Stargardt Disease 4 AD 603786
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type 4 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stiff Skin Syndrome AD 184900
Stroke, hemorrhagic 614519
Syndactyly Type 3 AD 186100
Testicular Cancer 273300
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Van Buchem Disease Type 2 607636
Visceral neuropathy, familial, 1, autosomal recessive AR 243180
Vitelliform Dystrophy AD 153700
Vitreoretinochoroidopathy Dominant AD 193220
Vitreoretinopathy with phalangeal epiphyseal dysplasia AD 619248
Vitreoretinopathy, Neovascular Inflammatory AD 193235
Wagner Syndrome AD 143200
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weill-Marchesani Syndrome 3 AR 614819
Weill-Marchesani-Like Syndrome AR 613195
Worth Disease AD 144750
{?Erythroleukemia, familial, susceptibility to} AD 133180

Related Test

Name
PGxome®

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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